Multisystem lesions in orphan diseases: rheumatological aspects of Fabrys disease. Case report
Поражения при орфанных заболеваниях: ревматологические аспекты болезни Фабри
Mashkunova O.V. Isabekova A.H. Botabekova A.Z. Novikov P.I.
2023Consilium MediCum
Terapevticheskii Arkhiv
2023#95Issue 6505 - 510 pp.
Fabry–Andersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme α-galactosidase A. Fabry disease is a multisystem disease and is characterized by damage to vital organs – kidneys, heart, brain, with the occurrence of complications that cause an unfavorable prognosis. Autoinflammation mechanisms with signs of chronic inflammation are involved in the pathogenesis of the disease. One of the features of Fabry disease are clinical manifestations in the form of arthralgia, fever, skin lesions, which are similar to rheumatological diseases. The article presents a clinical observation of the classical type of Fabry disease with multiple organ manifestation, which required differential diagnosis with rheumatological diseases. Rheumatologists are specialists who are involved in the early diagnosis of Fabry disease, so they should have a high awareness of this sphingolipidosis.
acroparesthesia , angiokeratoma , autoinflammation , enzyme replacement therapy , Fabry disease , multisystem , rheumatological aspects , sphingolipidosis , α-galactosidase
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Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan
Research Institute of Cardiology and Internal Medicine, Almaty, Kazakhstan
Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russian Federation
Asfendiyarov Kazakh National Medical University
Research Institute of Cardiology and Internal Medicine
Sechenov First Moscow State Medical University (Sechenov University)
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